Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 26

Results: 15

Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5456, doi. 10.1093/hmg/dds391
By:
- Foy, Rebecca L.;
- Chitalia, Vipul C.;
- Panchenko, Maria V.;
- Zeng, Liling;
- Lopez, Delia;
- Lee, Jean W.;
- Rana, Shaunak V.;
- Boletta, Alessandra;
- Qian, Feng;
- Tsiokas, Leonidas;
- Piontek, Klaus B.;
- Germino, Gregory G.;
- Zhou, Mina I.;
- Cohen, Herbert T.
Publication type:
Article
A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5443, doi. 10.1093/hmg/dds390
By:
- Jin, Min;
- Yu, Ying;
- Qi, Huabing;
- Xie, Yangli;
- Su, Nan;
- Wang, Xiaofeng;
- Tan, Qiaoyan;
- Luo, Fengtao;
- Zhu, Ying;
- Wang, Quan;
- Du, Xiaolan;
- Xian, Cory J.;
- Liu, Peng;
- Huang, Haiyang;
- Shen, Yue;
- Deng, Chu-Xia;
- Chen, Di;
- Chen, Lin
Publication type:
Article
Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5406, doi. 10.1093/hmg/dds402
By:
- Welander, Jenny;
- Larsson, Catharina;
- Bäckdahl, Martin;
- Hareni, Niyaz;
- Sivlér, Tobias;
- Brauckhoff, Michael;
- Söderkvist, Peter;
- Gimm, Oliver
Publication type:
Article
Editorial Board.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. NP, doi. 10.1093/hmg/dds520
Publication type:
Article
A novel role for doublecortin and doublecortin-like kinase in regulating growth cone microtubules.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5511, doi. 10.1093/hmg/dds395
By:
- Jean, Daphney C.;
- Baas, Peter W.;
- Black, Mark M.
Publication type:
Article
The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5528, doi. 10.1093/hmg/dds408
By:
- Habbig, Sandra;
- Bartram, Malte P.;
- Sägmüller, Josef G.;
- Griessmann, Anabel;
- Franke, Mareike;
- Müller, Roman-Ulrich;
- Schwarz, Ricarda;
- Hoehne, Martin;
- Bergmann, Carsten;
- Tessmer, Claudia;
- Reinhardt, H. Christian;
- Burst, Volker;
- Benzing, Thomas;
- Schermer, Bernhard
Publication type:
Article
Cover Page.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. NP, doi. 10.1093/hmg/dds519
Publication type:
Article
A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat–Wilson syndrome phenotypes.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5429, doi. 10.1093/hmg/dds389
By:
- El-Kasti, Muna M.;
- Wells, Timothy;
- Carter, David A.
Publication type:
Article
Contents Page.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. NP, doi. 10.1093/hmg/dds518
Publication type:
Article
Subscription Page.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. NP, doi. 10.1093/hmg/dds521
Publication type:
Article
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5484, doi. 10.1093/hmg/dds393
By:
- Cederquist, Gustav Y.;
- Luchniak, Anna;
- Tischfield, Max A.;
- Peeva, Maya;
- Song, Yuyu;
- Menezes, Manoj P.;
- Chan, Wai-Man;
- Andrews, Caroline;
- Chew, Sheena;
- Jamieson, Robyn V.;
- Gomes, Lavier;
- Flaherty, Maree;
- Grant, Patricia Ellen;
- Gupta, Mohan L.;
- Engle, Elizabeth C.
Publication type:
Article
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5472, doi. 10.1093/hmg/dds392
By:
- Hekman, Katherine E.;
- Yu, Guo-Yun;
- Brown, Christopher D.;
- Zhu, Haipeng;
- Du, Xiaofei;
- Gervin, Kristina;
- Undlien, Dag Erik;
- Peterson, April;
- Stevanin, Giovanni;
- Clark, H. Brent;
- Pulst, Stefan M.;
- Bird, Thomas D.;
- White, Kevin P.;
- Gomez, Christopher M.
Publication type:
Article
Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5397, doi. 10.1093/hmg/dds374
By:
- Burnichon, Nelly;
- Buffet, Alexandre;
- Parfait, Béatrice;
- Letouzé, Eric;
- Laurendeau, Ingrid;
- Loriot, Céline;
- Pasmant, Eric;
- Abermil, Nasséra;
- Valeyrie-Allanore, Laurence;
- Bertherat, Jérôme;
- Amar, Laurence;
- Vidaud, Dominique;
- Favier, Judith;
- Gimenez-Roqueplo, Anne-Paule
Publication type:
Article
Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5417, doi. 10.1093/hmg/dds377
By:
- Peoc'h, Katell;
- Levavasseur, Etienne;
- Delmont, Emilien;
- De Simone, Alfonso;
- Laffont-Proust, Isabelle;
- Privat, Nicolas;
- Chebaro, Yassmine;
- Chapuis, Céline;
- Bedoucha, Pierre;
- Brandel, Jean-Philippe;
- Laquerriere, Annie;
- Kemeny, Jean-Louis;
- Hauw, Jean-Jacques;
- Borg, Michel;
- Rezaei, Human;
- Derreumaux, Philippe;
- Laplanche, Jean-Louis;
- Haïk, Stéphane
Publication type:
Article
Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 26, p. 5500, doi. 10.1093/hmg/dds394
By:
- Wang, Tao;
- Pan, Qian;
- Lin, Li;
- Szulwach, Keith E.;
- Song, Chun-Xiao;
- He, Chuan;
- Wu, Hao;
- Warren, Stephen T.;
- Jin, Peng;
- Duan, Ranhui;
- Li, Xuekun
Publication type:
Article